Canonical Allele Identifier: CA387461514
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1458348
ClinVar RCV Id: RCV001949480
dbSNP Id: rs1555341945
MyVariant Identifiers: chr13:g.20763458G>A (hg19) chr13:g.20189319G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189319G>A , CM000675.2:g.20189319G>A GRCh38
NC_000013.10:g.20763458G>A , CM000675.1:g.20763458G>A GRCh37
NC_000013.9:g.19661458G>A NCBI36
NG_008358.1:g.8657C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.263C>T ENSP00000372295.1:p.Ala88Val
ENST00000382848.5:c.263C>T MANE Select ENSP00000372299.4:p.Ala88Val
ENST00000382844.1:c.263C>T ENSP00000372295.1:p.Ala88Val
ENST00000382848.4:c.263C>T ENSP00000372299.4:p.Ala88Val
NM_004004.5:c.263C>T NP_003995.2:p.Ala88Val
XM_011535049.1:c.263C>T XP_011533351.1:p.Ala88Val
XM_011535049.2:c.263C>T XP_011533351.1:p.Ala88Val
NM_004004.6:c.263C>T MANE Select NP_003995.2:p.Ala88Val
Search 100 bp 5'
Search 100 bp 3'